Article
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
The Journal of pathology - 1 Oct 2012
Piva Luisa, Gavassini Bruno F, Bello Luca, Fanin Marina, Soraru Gianni, Barp Andrea, Ermani Mario, Angelini Corrado, Hoffman Eric P, Pegoraro Elena
Abstract excerpt
A polymorphism (rs28357094) in the promoter region of the SPP1 gene coding for osteopontin (OPN) is a strong determinant of disease severity in Duchenne muscular dystrophy (DMD). The rare G allele of rs28357094 alters gene promoter function and reduces mRNA expression in transfected HeLa cells. To dissect the molecular mechanisms of increased disease severity associated with the G allele, we characterized SPP1...
Topics
- Blotting, Western
- Child
- Child, Preschool
- Cohort Studies
- Female